Canonical Allele Identifier: CA413707914

Gene: ATRX

Linked Data

• dbSNP Id: rs2148436292
• MyVariant Identifiers: chrX:g.76907653C>A (hg19) ; chrX:g.77652163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652163C>A , CM000685.2:g.77652163C>A	GRCh38
NC_000023.10:g.76907653C>A , CM000685.1:g.76907653C>A	GRCh37
NC_000023.9:g.76794309C>A	NCBI36
NG_008838.2:g.139059G>T
NG_008838.3:g.139107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4508G>T MANE Select	ENSP00000362441.4:p.Arg1503Ile
ENST00000373344.9:c.4508G>T	ENSP00000362441.4:p.Arg1503Ile
ENST00000395603.7:c.4394G>T	ENSP00000378967.3:p.Arg1465Ile
ENST00000480283.5:c.*4136G>T	ENSP00000480196.1:n.*4136G>T
ENST00000623242.3:c.114G>T
NM_000489.4:c.4508G>T	NP_000480.3:p.Arg1503Ile
NM_138270.3:c.4394G>T	NP_612114.2:p.Arg1465Ile
XM_005262153.3:c.4505G>T	XP_005262210.2:p.Arg1502Ile
XM_005262154.3:c.4421G>T	XP_005262211.2:p.Arg1474Ile
XM_005262155.3:c.4391G>T	XP_005262212.2:p.Arg1464Ile
XM_005262156.3:c.4343G>T	XP_005262213.2:p.Arg1448Ile
XM_005262157.3:c.4304G>T	XP_005262214.2:p.Arg1435Ile
XM_006724666.2:c.4391G>T	XP_006724729.1:p.Arg1464Ile
XM_006724667.2:c.4229G>T	XP_006724730.1:p.Arg1410Ile
XM_006724668.2:c.4508G>T	XP_006724731.1:p.Arg1503Ile
XR_938400.1:n.4776G>T
NM_000489.5:c.4508G>T	NP_000480.3:p.Arg1503Ile
XM_005262153.5:c.4505G>T	XP_005262210.2:p.Arg1502Ile
XM_005262154.5:c.4421G>T	XP_005262211.2:p.Arg1474Ile
XM_005262155.4:c.4391G>T	XP_005262212.2:p.Arg1464Ile
XM_005262156.4:c.4343G>T	XP_005262213.2:p.Arg1448Ile
XM_005262157.5:c.4304G>T	XP_005262214.2:p.Arg1435Ile
XM_006724666.4:c.4391G>T	XP_006724729.1:p.Arg1464Ile
XM_006724667.3:c.4229G>T	XP_006724730.1:p.Arg1410Ile
XM_006724668.3:c.4508G>T	XP_006724731.1:p.Arg1503Ile
XM_017029601.2:c.4418G>T	XP_016885090.1:p.Arg1473Ile
XM_017029602.1:c.4388G>T	XP_016885091.1:p.Arg1463Ile
XM_017029603.1:c.4340G>T	XP_016885092.1:p.Arg1447Ile
XM_017029604.2:c.4307G>T	XP_016885093.1:p.Arg1436Ile
XM_017029605.1:c.4304G>T	XP_016885094.1:p.Arg1435Ile
XM_017029606.2:c.4277G>T	XP_016885095.1:p.Arg1426Ile
XM_017029607.2:c.4274G>T	XP_016885096.1:p.Arg1425Ile
XM_017029608.2:c.4226G>T	XP_016885097.1:p.Arg1409Ile
XM_017029609.1:c.4190G>T	XP_016885098.1:p.Arg1397Ile
XM_017029610.1:c.4187G>T	XP_016885099.1:p.Arg1396Ile
XM_017029611.1:c.4142G>T	XP_016885100.1:p.Arg1381Ile
XR_001755700.2:n.4733G>T
NM_138270.4:c.4394G>T	NP_612114.2:p.Arg1465Ile
NM_000489.6:c.4508G>T MANE Select	NP_000480.3:p.Arg1503Ile
NM_138270.5:c.4394G>T	NP_612114.2:p.Arg1465Ile